Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration (Q34155381)

31 July 2017

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration (English)

1 reference

31 July 2017

David Kavanagh

11

0 references

Mark Joseph Daly

9

object named as

Mark Daly

1 reference

31 July 2017

7

Elaine R Mardis

1 reference

31 July 2017

3

Edwin K S Wong

1 reference

31 July 2017

Yi Yu

1

1 reference

31 July 2017

Michael P Triebwasser

2

1 reference

31 July 2017

Elizabeth C Schramm

4

1 reference

31 July 2017

Brett Thomas

5

1 reference

31 July 2017

Robyn Reynolds

6

1 reference

31 July 2017

John P Atkinson

8

1 reference

31 July 2017

Soumya Raychaudhuri

10

1 reference

31 July 2017

Johanna M Seddon

12

1 reference

31 July 2017

20 May 2014

1 reference

31 July 2017

Human Molecular Genetics

1 reference

31 July 2017

23

1 reference

31 July 2017

19

1 reference

31 July 2017

5283-5293

1 reference

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Whole-genome sequence-based analysis of high-density lipoprotein cholesterol

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Seven new loci associated with age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

An integrated map of genetic variation from 1,092 human genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

SIFT web server: predicting effects of amino acid substitutions on proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Complement factor H binds malondialdehyde epitopes and protects from oxidative stress

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Structural basis for complement factor I control and its disease-associated sequence polymorphisms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Current Clinical Trials in Dry AMD and the Definition of Appropriate Clinical Outcome Measures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Structure of complement fragment C3b-factor H and implications for host protection by complement regulators

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Complement factor H polymorphism in age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Complement factor H polymorphism and age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Complement factor H variant increases the risk of age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Evaluation of the clinical age-related maculopathy staging system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Strategies for multilocus linkage analysis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Analysis of the functional domains of complement receptor type 1 (C3b/C4b receptor; CD35) by substitution mutagenesis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4159152

Dissecting Sites Important for Complement Regulatory Activity in Membrane Cofactor Protein (MCP; CD46)

28 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU226

Structure-function analysis of the active sites of complement receptor type 1

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24847005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDU226

1 reference

31 July 2017

1 reference

31 July 2017

1 reference